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A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin.


ABSTRACT: AIM: To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes. METHODS: G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs. RESULTS: The karyotype of this patient was established as 47, XY, +mar/46, XY. C-banding showed that the marker chromosome was composed of heterochromatin without visible euchromatic material. No positive result was obtained in STRP, M-FISH and the microdeletion analysis of Y- chromosome. CONCLUSIONS: The small supernumerary marker chromosome could play a causative role in male infertility although the mechanism remains to be elucidated.

SUBMITTER: Wang W 

PROVIDER: S-EPMC2719068 | biostudies-other | 2009 May

REPOSITORIES: biostudies-other

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